The 10 autosomal recessive limb-girdle muscular dystrophies

This publication has 92 references indexed in Scilit:

• Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes
  Current Opinion in Neurology, 2000
• The limb-girdle muscular dystrophies--multiple genes,multiple mechanisms
  Human Molecular Genetics, 1999
• Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
  Nature Genetics, 1998
• A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
  Nature Genetics, 1998
• β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12
  Nature Genetics, 1995
• β–sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
  Nature Genetics, 1995
• Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
  Cell, 1995
• Human adhalin is alternatively spliced and the gene is located on chromosome 17q21.
  Proceedings of the National Academy of Sciences, 1994
• Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
  Cell, 1994
• Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families.
  Journal of Medical Genetics, 1993